A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in <i>SPTBN2</i>.

Zonta, Andrea; Brussino, Alessandro; Dentelli, Patrizia; Brusco, Alfredo

A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2.

Zonta, Andrea; Brussino, Alessandro; Dentelli, Patrizia; Brusco, Alfredo.

Afiliación

Zonta A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy.
Brussino A; Department Medical Sciences, University of Turin, Torino, Italy.
Dentelli P; Department Medical Sciences, University of Turin, Torino, Italy.
Brusco A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy alfredo.brusco@unito.it.

BMJ Case Rep ; 13(12)2020 Dec 13.

Article en En | MEDLINE | ID: mdl-33318253

Asunto(s)

Encéfalo/patología; Espectrina/genética; Ataxias Espinocerebelosas/genética; Preescolar; Femenino; Humanos; Discapacidad Intelectual; Imagen por Resonancia Magnética; Mutación Missense; Fenotipo; Espectrina/metabolismo

Palabras clave

brain stem / cerebellum; genetics; neuro genetics

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encéfalo / Espectrina / Ataxias Espinocerebelosas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: BMJ Case Rep Año: 2020 Tipo del documento: Article País de afiliación: Italia

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